ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.807T>G (p.Ser269=)

dbSNP: rs2479097805
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003023965 SCV003329742 likely benign Cornelia de Lange syndrome 1 2022-11-22 criteria provided, single submitter clinical testing

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